Human glucose 6 phosphatase, catalytic, 3 ELISA Kit | G6PC3 elisa kit

Human Glucose-6-phosphatase 3, G6PC3 ELISA Kit

Cat. Num. AAA9333310

• Gene Names: G6PC3; SCN4; UGRP
• Reactivity: Human
• Synonyms: glucose 6 phosphatase; catalytic; 3; Human Glucose-6-phosphatase 3; G6PC3 ELISA Kit; Human Glucose-6-phosphatase 3 (G6PC3) ELISA kit; SCN4; UGRP; G6Pase-beta; glucose-6-phosphatase catalytic subunit 3; ubiquitously expressed G6Pase catalytic subunit-related protein; G6PC3 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 24308434
• NCBI GeneID: 92579
• NCBI Accession #: NP_612396.1
• NCBI GenBank Nucleotide #: NM_138387.3
• UniProt Accession #: Q9BUM1; Q8WU15
• Molecular Weight: 38,735 Da
• NCBI Official Full Name: glucose-6-phosphatase 3
• NCBI Official Synonym Full Names: glucose 6 phosphatase, catalytic, 3
• NCBI Official Symbol: G6PC3
• NCBI Official Synonym Symbols: SCN4; UGRP
• NCBI Protein Information: glucose-6-phosphatase 3; G6Pase 3; G-6-Pase 3; G6Pase-beta; glucose-6-phosphatase catalytic subunit 3; ubiquitously expressed G6Pase catalytic subunit-related protein; ubiquitous glucose-6-phosphatase catalytic subunit-related protein
• UniProt Protein Name: Glucose-6-phosphatase 3
• Protein Family: Glucose-6-phosphatase
• UniProt Gene Name: G6PC3
• UniProt Synonym Gene Names: UGRP; G-6-Pase 3; G6Pase 3; G6Pase-beta
• UniProt Entry Name: G6PC3_HUMAN

NCBI Description

This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Multiple transcript variants have been found for this gene, only one of which is expected to express a protein.[provided by RefSeq, Sep 2009]

Uniprot Description

G6PC3: Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function. Defects in G6PC3 are the cause of neutropenia severe congenital autosomal recessive type 4 (SCN4). Autosomal recessive SCN constitutes a primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells. Individuals show a paucity of mature neutrophils in peripheral blood and bone marrow and develop life-threatening bacterial infections. SCN4 is a severe congenital neutropenia syndrome associated with cardiac and urogenital malformations. Defects in G6PC3 are the cause of Dursun syndrome (DURSS). A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia. Belongs to the glucose-6-phosphatase family.

Protein type: Transporter; Membrane protein, multi-pass; Membrane protein, integral; Transporter, SLC family; EC 3.1.3.9; Phosphatase (non-protein)

Chromosomal Location of Human Ortholog: 17q21.31

Cellular Component: endoplasmic reticulum membrane; membrane; integral to membrane

Molecular Function: glucose-6-phosphatase activity

Biological Process: dephosphorylation; glucose-6-phosphate transport; hexose transport; carbohydrate metabolic process; glucose 6-phosphate metabolic process; pathogenesis; glucose transport; transmembrane transport; gluconeogenesis

Disease: Neutropenia, Severe Congenital, 4, Autosomal Recessive